Year: 2024
Type: article
Study design: Observational Study
Abstract: STUDY QUESTION: Is there an increased risk of reproductive or colon cancer in women with Turner syndrome and their family members? SUMMARY ANSWER: Our data suggest that there is an increased risk for sigmoid colon cancer in women with Turner syndrome and an increased prostate cancer risk in second- and third-degree male relatives. WHAT IS KNOWN ALREADY: Turner syndrome has been associated with lower risk of breast cancer, but increased risk of gonadoblastoma and colon cancer in some, but not all studies. There is also evidence for a genetic predisposition to sex chromosome aneuploidy, which may indicate a predisposition to Turner syndrome and the associated cancer risk in family members. STUDY DESIGN, SIZE, DURATION: The study was a retrospective case-control study of women with Turner syndrome diagnosed from 1995 to 2021, their relatives, and population subjects from Utah. PARTICIPANTS/MATERIALS, SETTING, METHODS: Women with Turner syndrome were identified using International Classification of Disease (ICD) codes in electronic medical records from two major Utah healthcare systems and reviewed for accuracy. Women with Turner syndrome were linked to genealogy in the Utah Population Database. Cancer diagnoses (breast, ovarian, endometrial, colon, testicular, and prostate) were determined for women with Turner syndrome and their relatives using the Utah Cancer Registry. Live births to women with Turner syndrome were identified by linked birth certificates. The relative risk of cancer in women with Turner syndrome and in relatives was estimated by comparison to population rates matched by age, sex, and birthplace. MAIN RESULTS AND THE ROLE OF CHANCE: We identified 289 women with Turner syndrome. Sigmoid colon cancer was increased in women with Turner syndrome (OR [95% CI] 24.2 [2.9, 87.4]; P = 0.0032). There were 233 women with Turner syndrome who had at least three generations of genealogical data. There was an increased risk of Turner syndrome in first- (OR [95% CI] 18.08 [2.19, 65.32]; P = 0.0057) and second-degree relatives (9.62 [1.17, 34.74]; P = 0.019), although numbers were very small. There was an increased risk of prostate cancer in second- (1.8 [1.4, 2.2]; P < 0.001) and third-degree relatives (1.3 [1.1, 1.5]; P < 0.001). There was no increased risk of colon cancer in relatives. LIMITATIONS, REASONS FOR CAUTION: Based on the small number of sigmoid colon cancer cases, it is possible that our data have overestimated the colon cancer risk. Limitations include the identification of Turner syndrome by a diagnosis code in one of the two major health systems in Utah. The population is largely northern European with 9.3% of the women self-identified as Hispanic and 2.4% as Native American or multiple races. The results may not be generalizable to other populations. WIDER IMPLICATIONS OF THE FINDINGS: Our data suggest that women with Turner syndrome may need early screening for colon cancer. Additional studies are needed to identify risk factors for sex chromosome aneuploidy and cancer risk in women with Turner syndrome and their male relatives. STUDY FUNDING/COMPETING INTEREST(S): The work in this publication was supported by R56HD090159 and R01HD099487 (C.K.W.). We also acknowledge partial support for the Utah Population Database through grant P30 CA2014 from the National Cancer Institute. The Utah Cancer Registry is funded by the National Cancer Institute's SEER Program, Contract No. HHSN261201800016I, the US Centers for Disease Control and Prevention's National Program of Cancer Registries, Cooperative Agreement No. NU58DP007131, with additional support from the University of Utah and Huntsman Cancer Foundation. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The authors have no conflicts of interest. TRIAL REGISTRATION NUMBER: N/A.
Source: Human Reproduction
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $4,656
Funders: Intermountain Healthcare, Huntsman Cancer Foundation, Huntsman Cancer Institute, National Institutes of Health, Centers for Disease Control and Prevention, Center for Clinical and Translational Science, University of Utah, National Cancer Institute, National Center for Advancing Translational Sciences
Awards: G2404168171, G2589891583, G2995161194, G515607660, G5848925640, G5988236331, Utah Center for Clinical and Translational Science, G6220138500, CANCER PREVENTION AND CONTROL PROGRAM 3: NATIONAL PROGRAM OF CANCER REGISTRIES - THE MISSION OF THE UTAH CANCER REGISTRY (UCR), AS AUTHORIZED BY THE UTAH CANCER REPORTING RULE, IS TO PROMOTE PUBLIC HEALTH BY COLLECTING AND MANAGING CANCER INCIDENCE AND MORTALITY DATA FOR THE STATE OF UTAH. UCR HAS OPERATED AS A STATEWIDE, POPULATION-BASED REGISTRY IN UTAH SINCE 1966. UCR JOINED THE NATIONAL PROGRAM OF CANCER REGISTRIES (NPCR) IN 2017. UCR DATA SUBMITTED TO CDC HAVE MET THE NATIONAL DATA QUALITY STANDARD FOR EACH YEAR OF OUR NPCR PARTICIPATION, AND THE REGISTRY HAS RECEIVED MULTIPLE ANNUAL AWARDS RECOGNIZING HIGHEST DATA QUALITY AS ASSESSED BY THE SURVEILLANCE, EPIDEMIOLOGY, AND END RESULTS PROGRAM (SEER) OF THE NATIONAL CANCER INSTITUTE AND BY THE NORTH AMERICAN ASSOCIATION OF CENTRAL CANCER REGISTRIES (NAACCR). IN THIS APPLICATION, THE UNIVERSITY OF UTAH REQUESTS SUPPORT FOR UCR UNDER CDC-RFA-DP22-2202 PROGRAM 3, NPCR. WE REQUEST THIS SUPPORT TO ENHANCE OUR SURVEILLANCE QUALITY, PERFORM PROGRAM MONITORING AND EVALUATION, AND COLLABORATE WITH PARTNERS IN CANCER CONTROL AND PREVENTION THROUGH DISSEMINATION OF DATA TO IMPROVE HEALTH EQUITY AND CANCER OUTCOMES. IN THIS APPLICATION, WE PRESENT A COMPREHENSIVE WORK PLAN THAT ENCOMPASSES ACTIVITIES TO ADDRESS THE FOUR APPLICABLE STRATEGIES OF THE NOTICE OF FUNDING OPPORTUNITY. A COMPREHENSIVE AND COORDINATED APPROACH IS VITAL TO DEVELOPING AND IMPLEMENTING STRATEGIES AND ACTIVITIES TO CONTROL AND PREVENT CANCER. UCR COLLABORATES CLOSELY WITH UTAH DEPARTMENT OF HEALTH (UDOH) CANCER PROGRAMS TO SUPPORT AND ADVANCE CANCER CONTROL AND PREVENTION IN UTAH THROUGH DISSEMINATION OF DATA AND PARTICIPATION IN JOINT PROJECTS AND INITIATIVES. IN THIS APPLICATION, WE PROPOSE ACTIVITIES THAT SUPPORT OUR COLLABORATORS’ PROGRAM PLANNING AND IMPLEMENTATION BY MAINTAINING OUR STRONG SURVEILLANCE INFRASTRUCTURE AND DISSEMINATING HIGH QUALITY DATA. WE ALSO PROPOSE TO COLLABORATE WITH OUR PARTNERS AT UDOH TO IMPLEMENT A POPULATION-BASED SURVEY OF CANCER SURVIVORS FOR SURVEILLANCE OF HEALTH IN THIS POPULATION AND IMPROVE HEALTH EQUITY. THROUGH THE PROPOSED ACTIVITIES, UCR WILL IMPROVE THE TIMELINESS, QUALITY, COMPLETENESS, AND CONFIDENTIALITY OF NPCR SURVEILLANCE DATA THROUGH RIGOROUS PROGRAM MONITORING AND INCREASED ADOPTION OF DATA MODERNIZATION STRATEGIES. WE WILL ALSO INCREASE COLLABORATION WITH OUR PUBLIC HEALTH PARTNERS AND THE DISSEMINATION OF USE OF SURVEILLANCE DATA., G993183548
OpenAlex ID: W4405296753